2 Matching Annotations
  1. Sep 2024
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
    1
    1. krisBussey97 23 Sep 2024

      functional assays

      Chemiluminescence assays (measuring binding capacity)

      VWF-collagen binding assay (CBA)

      Electrophoresis (Western blot)

      Bidirectional direct sequencing of PCR products

      Paternity test

      PCR and restriction assays to detect SNVs

      in vitro expression of recombinant WT and p.P1127S VWF variants in HEK293 cells

      Platelet aggregation studies

      DDAVP test

      Binding assays

      Proteolysis assays

      in silico modeling

      proteolysis assay binding assays paternity test VWF collagen binding activity western blot platelet aggregation studies
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9545986/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The p.R1819_C1948delinsS mutation makes von Willebrand factor ADAMTS13-resistant and reduces its collagen-binding capacity
    1
    1. krisBussey97 23 Sep 2024

      Tests performed: Haemostatic tests ristocetin-induced platelet aggregation plasma VWF antigen VWF risocetin cofactor VWF FVIII-binding capacity VWF multimers and FVIII activity DDAVP test Concentration timecourses

      sequencing from genomic DNA performed and reported in 2011

      cDNA analysis

      Real-time-PCR analysis

      long PCR

      Ellman assay (quantifying sulfhydryls)

      Dynamic light scattering measurements

      circular dichroism

      ADAMTS13 proteolysis assay

      ADAMTS13-VWF binding assay

      RT-PCR Haemostatic tests cDNA analysis in vitro expression Ellman assay proteolysis assay ADAMTS13 binding
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/bjh.13472